Varaico: Literature-Extracted Genetic Variants

SIRPA

164 papers

RefSeq Summary

The protein encoded by this gene is a member of the signal-regulatory-protein (SIRP) family, and also belongs to the immunoglobulin superfamily. SIRP family members are receptor-type transmembrane gly...

Pfam Domains

V-setaa 38–145UCSCImmunoglobulin V-set domain

C1-setaa 152–235UCSCImmunoglobulin C1-set domain

C1-setaa 256–338UCSCImmunoglobulin C1-set domain

Gene Aliases

HGNC Name

signal regulatory protein alpha

HGNC Previous Symbol

PTPNS1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001040023.2

p.V43A

c.128T>C

Surrounding Variants

1 paper

NM_001040023.2

p.V43M

c.127G>A

1 paper

NM_001040023.2

p.V43V

c.129G>A

2 papers

NM_001040023.2

p.V43_L44delFs

c.129_130delGT

4 papers

NM_001040023.2

p.L44S

c.131T>C

1 paper

NM_001040023.2

p.D40E

c.120C>A

1 paper

NM_001040023.2

p.D40E

c.120C>G

1 paper

NM_001040023.2

p.A47G

c.140C>G

1 paper

NM_001040023.2

p.V36G

c.107T>G

1 paper

NM_001040023.2

p.E32D

c.96G>C

1 paper

NM_001040023.2

p.E32D

c.96G>T

2 papers

NM_001040023.2

p.R54H

c.161G>A

1 paper

NM_001040023.2

p.E31E

c.93G>A